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Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network.
Wong WM, Tham YC, Ayton LN, Britten-Jones AC, Edwards TL, Grigg J, Simunovic MP, Chen FK, Jin ZB, Shen RJ, Sui R, Yang L, Zhao C, Chen H, Li S, Ding X, Bhende M, Raman R, Sen P, Poornachandra B, Chia V, Manurung F, Sasongko MB, Ikeda H, Fujinami K, Woo SJ, Kim SJ, Bastion MC, Kamalden AT, Lott PP, Fong K, Shunmugam M, Lim A, Thapa R, Ibañez BMB, Koh A, Holder GE, Su X, Chan CM, Fenner BJ, Laude A, Ngo WK, Chen TC, Wang NK, Kang EY, Surawatsatien N, Pisuchpen P, Sujirakul T, Wongchaisuwat N, Apivatthakakul A, Kumaramanickavel G, Leroy B, Michaelides M, Pontikos N, Cheng CY, Pang CP, Chen LJ, Chan HW. Wong WM, et al. Among authors: fujinami k. Asia Pac J Ophthalmol (Phila). 2024 Sep-Oct;13(5):100098. doi: 10.1016/j.apjo.2024.100098. Epub 2024 Oct 2. Asia Pac J Ophthalmol (Phila). 2024. PMID: 39366638 Free article.
PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Varela MD, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M. Hashem SA, et al. Among authors: fujinami k. Ophthalmol Retina. 2024 Aug 31:S2468-6530(24)00405-6. doi: 10.1016/j.oret.2024.08.018. Online ahead of print. Ophthalmol Retina. 2024. PMID: 39218074 Free article.
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.
Woof W, de Guimarães TAC, Al-Khuzaei S, Daich Varela M, Sen S, Bagga P, Mendes B, Shah M, Burke P, Parry D, Lin S, Naik G, Ghoshal B, Liefers B, Fu DJ, Georgiou M, Nguyen Q, da Silva AS, Liu Y, Fujinami-Yokokawa Y, Sumodhee D, Patel P, Furman J, Moghul I, Moosajee M, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami K, Webster AR, Mahroo O, Downes SM, Madhusudhan S, Balaskas K, Michaelides M, Pontikos N. Woof W, et al. Among authors: fujinami k. medRxiv [Preprint]. 2024 Aug 14:2024.03.24.24304809. doi: 10.1101/2024.03.24.24304809. medRxiv. 2024. PMID: 38585957 Free PMC article. Preprint.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: fujinami k. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
247 results